Linked Data
dbSNP Id:
rs748524765
ExAC:
4:6303387 G / T
gnomAD v2:
4-6303387-G-T
gnomAD v3:
4-6301660-G-T
gnomAD v4:
4-6301660-G-T
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000004.12:g.6301660G>T , CM000666.2:g.6301660G>T | GRCh38 |
| NC_000004.11:g.6303387G>T , CM000666.1:g.6303387G>T | GRCh37 |
| NC_000004.10:g.6354288G>T | NCBI36 |
| NG_011700.1:g.36811G>T |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000682275.1:c.1901G>T | ENSP00000507852.1:p.Gly634Val | |
| ENST00000683395.1:c.1842G>T | ||
| ENST00000684087.1:c.1865G>T | ENSP00000506978.1:p.Gly622Val | |
| ENST00000506362.2:c.1616G>T | ENSP00000424103.2:p.Gly539Val | |
| ENST00000673642.1:c.1524G>T | ENSP00000501242.1:n.1524G>T | |
| ENST00000673991.1:c.1901G>T | ENSP00000501033.1:p.Gly634Val | |
| ENST00000226760.5:c.1865G>T MANE Select | ENSP00000226760.1:p.Gly622Val | |
| ENST00000503569.5:c.1865G>T | ENSP00000423337.1:p.Gly622Val | |
| ENST00000507765.1:n.2050G>T | ||
| NM_001145853.1:c.1865G>T | NP_001139325.1:p.Gly622Val | |
| NM_006005.3:c.1865G>T MANE Select | NP_005996.2:p.Gly622Val | |
| XM_017008586.1:c.1874G>T | XP_016864075.1:p.Gly625Val |